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Topic Review
Russell-Silver Syndrome
Russell-Silver syndrome is a growth disorder characterized by slow growth before and after birth.
  • 1.1K
  • 24 Dec 2020
Topic Review
New Genetic Screening Technologies (NIPT)
The search for prenatal detection of chromosomal anomalies has been ongoing since the 1960s. At the very beginning, maternal age was the screening parameter of choice, and Down syndrome the anomaly that was almost exclusively screened for. Since then things have, at least technically, changed enormously, even though Down syndrome is still the main focus of screening and in the minds of many patients the only diagnosis that they may confront. Structural chromosomal anomalies and monogenic diseases are still not focused on by current screening algorithms, nor by the education system or by society in general. With the clinical implementation of non-invasive prenatal testing (NIPT) in 2012, there has been a paradigm shift in prenatal screening. First trimester combined screening (FTCS) based on maternal age, fetal nuchal translucency thickness (NT) and the serum markers β-HCG and PAPP-A has a detection rate (DR) of 90–95%, a false positive rate of 2.5–5% and a PPV of 3.4 for the detection of trisomy 21. Included is the advantage that, if the results are abnormal, it could raise suspicion not only for the common trisomies, but also for early detectable fetal structural defects and other clinically relevant findings such as rare autosomal trisomies (RATs), triploidy, single gene disorders and copy number variants not detectable in a targeted NIPT approach. A disadvantage is the comparatively high false positive rate leading to invasive procedures.
  • 1.1K
  • 26 Apr 2021
Topic Review
Chromosome 1
Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 1, one copy inherited from each parent, form one of the pairs.
  • 1.1K
  • 24 Dec 2020
Topic Review
Cohen Syndrome
Cohen syndrome is an inherited disorder that affects many parts of the body and is characterized by developmental delay, intellectual disability, small head size (microcephaly), and weak muscle tone (hypotonia). Other features common in this condition include worsening nearsightedness (myopia), breakdown (degeneration) of the light-sensitive tissue at the back of the eye (retinal dystrophy), an unusually large range of joint movement (hypermobility), and distinctive facial features. These facial features typically include thick hair and eyebrows, long eyelashes, unusually-shaped eyes (down-slanting and wave-shaped), a bulbous nasal tip, a smooth or shortened area between the nose and the upper lip (philtrum), and prominent upper central teeth. The combination of the last two facial features results in an open mouth.
  • 1.1K
  • 24 Dec 2020
Topic Review
POIKTMP
Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (abbreviated POIKTMP), is a disorder that affects many parts of the body, particularly the skin, muscles, lungs, and pancreas. Signs and symptoms vary among affected individuals.
  • 1.1K
  • 04 Jan 2021
Topic Review
Lynch Syndrome
Lynch syndrome, often called hereditary nonpolyposis colorectal cancer (HNPCC), is an inherited disorder that increases the risk of many types of cancer, particularly cancers of the colon (large intestine) and rectum, which are collectively referred to as colorectal cancer.
  • 1.1K
  • 04 Jan 2021
Topic Review
Allan-Herndon-Dudley Syndrome
Allan-Herndon-Dudley syndrome is a rare disorder of brain development that causes moderate to severe intellectual disability and problems with movement. This condition, which occurs exclusively in males, disrupts development from before birth. Although affected males have impaired speech and a limited ability to communicate, they seem to enjoy interaction with other people.
  • 1.1K
  • 24 Dec 2020
Topic Review
Apert Syndrome
Apert syndrome is a genetic disorder characterized by skeletal abnormalities. A key feature of Apert syndrome is the premature closure of the bones of the skull (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face. In addition, a varied number of fingers and toes are fused together (syndactyly).
  • 1.1K
  • 24 Dec 2020
Topic Review
Familial Mediterranean Fever
Familial Mediterranean fever is an inherited condition characterized by recurrent episodes of painful inflammation in the abdomen, chest, or joints. These episodes are often accompanied by fever and sometimes a rash or headache. Occasionally inflammation may occur in other parts of the body, such as the heart; the membrane surrounding the brain and spinal cord; and in males, the testicles. In about half of affected individuals, attacks are preceded by mild signs and symptoms known as a prodrome. Prodromal symptoms include mildly uncomfortable sensations in the area that will later become inflamed, or more general feelings of discomfort.
  • 1.1K
  • 25 Dec 2020
Topic Review
Familial Erythrocytosis
Familial erythrocytosis is an inherited condition characterized by an increased number of red blood cells (erythrocytes).
  • 1.1K
  • 25 Dec 2020
Topic Review
Human Malformation Syndromes and SHH Pathway
Human hereditary malformation syndromes are caused by mutations in the genes of the signal transduction molecules involved in fetal development. Among them, the Sonic hedgehog (SHH) signaling pathway is the most important, and many syndromes result from its disruption. The output of the SHH pathway is shown as GLI activity, which is generated by SHH in a concentration-dependent manner, i.e., the sum of activating form of GLI (GLIA) and repressive form of GLI (GLIR). Which gene is mutated and whether the mutation is loss-of-function or gain-of-function determine in which concentration range of SHH the imbalance occurs. In human malformation syndromes, too much or too little GLI activity produces symmetric phenotypes affecting brain size, craniofacial (midface) dysmorphism, and orientation of polydactyly with respect to the axis of the limb. 
  • 1.1K
  • 17 Dec 2021
Topic Review
FG Syndrome
FG syndrome is a genetic condition that affects many parts of the body and occurs almost exclusively in males. "FG" represents the surname initials of the first family diagnosed with the disorder.
  • 1.1K
  • 25 Dec 2020
Topic Review
PLG Gene
plasminogen
  • 1.1K
  • 25 Dec 2020
Topic Review
MEFV Gene
MEFV, pyrin innate immunity regulator
  • 1.1K
  • 22 Dec 2020
Topic Review
C3 Gene
complement C3
  • 1.1K
  • 24 Dec 2020
Topic Review
Robinow Syndrome
Robinow syndrome is a rare disorder that affects the development of many parts of the body, particularly the skeleton.
  • 1.1K
  • 24 Dec 2020
Topic Review
Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia (CAH) due to 11-beta-hydroxylase deficiency is one of a group of disorders (collectively called congenital adrenal hyperplasia) that affect the adrenal glands. The adrenal glands are located on top of the kidneys and produce a variety of hormones that regulate many essential functions in the body. In people with CAH due to 11-beta-hydroxylase deficiency, the adrenal glands produce excess androgens, which are male sex hormones.
  • 1.1K
  • 04 Jan 2021
Topic Review
Canavan Disease
Canavan disease is a rare inherited disorder that damages the ability of nerve cells (neurons) in the brain to send and receive messages. This disease is one of a group of genetic disorders called leukodystrophies. Leukodystrophies disrupt the growth or maintenance of the myelin sheath, which is the covering that protects nerves and promotes the efficient transmission of nerve impulses.
  • 1.1K
  • 24 Dec 2020
Topic Review
The Major Types of Non-Coding RNAs
Non-coding RNAs (ncRNAs) encompass all RNAs that are not translated into proteins. They are classified by features such as length and structure, and include microRNAs (miRs), long non-coding RNAs (lncRNAs), and circular RNAs (circRNAs).
  • 1.1K
  • 01 Feb 2023
Topic Review
Mutational Signatures in Gastric Cancer
Gastric cancer is characterised by high inter- and intratumour heterogeneity. The majority of patients are older than 65 years and the global burden of this disease is increasing due to the aging of the population. The disease is usually diagnosed at advanced stages, which is a consequence of nonspecific symptoms. A new field of mutational signatures has emerged in the past decade with advances in the genome sequencing technology. These distinct mutational patterns in the genome, caused by exogenous and endogenous mutational processes, can be associated with tumour aetiology and disease progression, and could provide novel perception on the treatment possibilities. 
  • 1.1K
  • 06 Nov 2023
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